ORPHA:206428
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Synonyms: HPRT deficiency · HPRT1 deficiency · Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
- Status
- active
A group of rare hereditary disorders of purine metabolism characterized by uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypoxanthine-guanine phosphoribosyltransferase deficiency | HPRT deficiency · HPRT1 deficiency · Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency |
| fr | Déficit en hypoxanthine-guanine phosphoryl transférase | Déficit en HPRT · Déficit en HPRT1 · Déficit en hypoxanthine-guanine phosphoryl transférase 1 |
| de | Hypoxanthin-Guanin-Phosphoribosyltransferase-Mangel | HPRT-Mangel · HPRT1-Mangel · Hypoxanthin-Guanin-Phosphoribosyltransferase-1-Mangel |
| es | Deficiencia de hipoxantina-guanina fosforibosiltransferasa | Deficiencia de HPRT · Deficiencia de HPRT1 · Deficiencia de hipoxantina-guanina fosforibosiltransferasa 1 |
| it | Deficit di ipoxantina-guanina fosforibosiltransferasi | Deficit di HPRT · Deficit di HPRT1 · Deficit di ipoxantina-guanina fosforibosiltransferasi 1 |
| nl | Deficiëntie van hypoxanthine-guanine-fosforibosyltransferase | Deficiëntie van hypoxanthine-guanine-fosforibosyltransferase 1 · HPRT-deficiëntie · HPRT1-deficiëntie |
| pt | Deficiência da hipoxantina-guanina fosforribosiltransferase | |
| pl | Niedobór fosforybozyltransferazy hipoksantynowo-guaninowej | Niedobór fosforybozyltransferazy hipoksantynowo-guaninowej 1 · Niedobór HPRT deficiency · Niedobór HPRT1 |
| cs | Deficit hypoxanthinguaninfosforibosyltransferázy | Deficit HPRT · Deficit HPRT1 · Deficit hypoxanthinguaninfosforibosyltransferázy 1 |
| uk | Дефіцит гіпоксантин-гуанінфосфорибозилтрансферази | Дефіцит HPRT · Дефіцит HPRT1 · Дефіцит гіпоксантин-гуанін-фосфорибозилтрансферази 1 |
| zh | 次黄嘌呤鸟嘌呤磷酸核糖转移酶缺乏症 | 次黄嘌呤鸟嘌呤磷酸核糖转移酶1缺乏症 |
| tr | Hipoksantin-guanin fosforibosiltransferaz eksikliği | HPRT eksikliği · HPRT1 eksikliği · Hipoksantin-guanin fosforibosiltransferaz 1 eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016088 | E | validated | |
| MONDO | 16088 | E | validated | |
| UMLS | C5848153 | E | validated | |
| GARD | 2943 | E | validated | |
| MedDRA | 10075774 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:79191Disorder of purine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98415Vitamin B12- and folate-independent constitutional megaloblastic anemia
rare genetic diseases; rare hematological diseases
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/206428
- This record as JSON: /data/d/206428.json